Jean-pierre P. Desvignes
Marseille, France
Last Updated: 09/26/2026
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Found 37 publications
A predictive model for life-threatening fluoropyrimidine toxicity based on DPYD sequencing in colorectal cancer.
Journal: Journal of the National Cancer Institute
Published: August 25, 2025
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Journal: Frontiers in bioinformatics
Published: December 19, 2022
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
Journal: Molecular syndromology
Published: February 05, 2021
Identification of a peripheral blood gene signature predicting aortic valve calcification.
Journal: Physiological genomics
Published: October 12, 2020
Piezo1 is required for outflow tract and aortic valve development.
Journal: Journal of molecular and cellular cardiology
Published: January 27, 2020
Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation.
Journal: eLife
Published: January 13, 2020
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Journal: Journal of human genetics
Published: September 20, 2019
Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.
Journal: Circulation. Genomic and precision medicine
Published: May 22, 2019
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
Journal: Human molecular genetics
Published: February 13, 2019
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Journal: BMJ open
Published: October 31, 2018
Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis.
Journal: Nature communications
Published: August 24, 2018
Last Updated: 09/26/2026